Mandibuloacral dysplasia
ORPHA:2457Malformation syndromeAutosomal recessiveInfancy, Neonatal
Фенотипы (HPO)34
Очень частый (80–99%)12
HP:0000218High palate
HP:0000293Full cheeks
HP:0000347Micrognathia
HP:0000460Narrow nose
HP:0000468Increased adipose tissue around the neck
HP:0000842Hyperinsulinemia
HP:0000855Insulin resistance
HP:0000963Thin skin
HP:0001000Abnormality of skin pigmentation
HP:0003635Loss of subcutaneous adipose tissue in limbs
HP:0005781Contractures of the large joints
HP:0100578Lipoatrophy
Частый (30–79%)22
HP:0000270Delayed cranial suture closure
HP:0000678Dental crowding
HP:0000685Hypoplasia of teeth
HP:0000831Insulin-resistant diabetes mellitus
HP:0000894Short clavicles
HP:0000956Acanthosis nigricans
HP:0001090Abnormally large globe
HP:0001596Alopecia
HP:0001804Hypoplastic fingernail
HP:0001870Acroosteolysis of distal phalanges (feet)
HP:0001952Glucose intolerance
HP:0002155Hypertriglyceridemia
HP:0003124Hypercholesterolemia
HP:0003809Nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic)
HP:0008070Sparse hair
HP:0008897Postnatal growth retardation
HP:0008993Increased intraabdominal fat
HP:0009003Increased subcutaneous truncal adipose tissue
HP:0009839Osteolytic defects of the distal phalanges of the hand
HP:0011334Facial shape deformation
HP:0030781Increased circulating free fatty acid level
HP:0030809Abnormal tongue morphology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 40 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)